title: Hepatic beta galactosidase and feline GMI gangliosidosis.
abstract: This paper describes the clinical, morphological and biochemical features of three cats with a progressive neurological disorder. Clinical features were ataxia and progressive tremor. The morphological characteristics were those of lysosomal storage disease affecting neurones of the central nervous system and autonomic ganglia; membranous cytoplasmic bodies were demonstrated by electron microscopy in cerebral neurones. Chemical analysis of brain from two of the cats revealed an increased content of total gangliosides, sialic acid and a specific increase in GMI ganglioside. Enzyme analysis of homogenates of leucocytes, spleen and brain showed less than 5% or normal 4-methylumbelliferyl-beta galactosidase (4MU-beta gal) activity. In liver, activity was markedly reduced at pH values below 4.2, but there was considerable activity above this value. The properties of 4MU-beta gal in normal and diseased feline livers were investigated. Sephadex gel filtration of diseased liver homogenates showed an absence of two thermolabile "acid' components, and reduced activity of a third thermostable "neutral' component. The biochemical abnormalities found in the diseased cats are similar to those found in human juvenile GMI gangliosidosis (type 2).
mesh_terms: D000818:Animals; D001921:Brain / Q000201:enzymology* / Q000473:pathology; D002371:Cat Diseases / Q000201:enzymology* / Q000473:pathology; D002415:Cats; D005260:Female; D005677:G(M1) Ganglioside / Q000378:metabolism; D005696:Galactosidases / Q000378:metabolism*; D005733:Gangliosidoses / Q000201:enzymology / Q000473:pathology / Q000662:veterinary*; D006801:Humans; D008099:Liver / Q000201:enzymology*; D008297:Male; D001616:beta-Galactosidase / Q000378:metabolism*
chemical_list: D005677:G(M1) Ganglioside; D005696:Galactosidases; D001616:beta-Galactosidase